Canonical Allele Identifier: CA2671741342

Gene: CFI

Linked Data

• gnomAD v4: 4-109740595-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740596_109740597del , CM000666.2:g.109740596_109740597del	GRCh38
NC_000004.11:g.110661752_110661753del , CM000666.1:g.110661752_110661753del	GRCh37
NC_000004.10:g.110881201_110881202del	NCBI36
NG_007569.1:g.66389_66390del , LRG_48:g.66389_66390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1894_1713+1895del
ENST00000695845.1:n.1712+1894_1712+1895del
ENST00000645635.1:c.1534+1894_1534+1895del	ENSP00000493607.1:n.1534+1894_1534+1895del
XM_011531920.1:c.1558+1894_1558+1895del	XP_011530222.1:n.1558+1894_1558+1895del
XM_011531920.2:c.1558+1894_1558+1895del	XP_011530222.1:n.1558+1894_1558+1895del
XM_017008164.2:c.1534+1894_1534+1895del	XP_016863653.1:n.1534+1894_1534+1895del
XM_017008165.2:c.1513+1894_1513+1895del	XP_016863654.1:n.1513+1894_1513+1895del
XM_017008166.2:c.1534+1894_1534+1895del	XP_016863655.1:n.1534+1894_1534+1895del
NM_001375278.1:c.1558+1894_1558+1895del	NP_001362207.1:n.1558+1894_1558+1895del
NM_001375279.1:c.1534+1894_1534+1895del	NP_001362208.1:n.1534+1894_1534+1895del
NM_001375280.1:c.1513+1894_1513+1895del	NP_001362209.1:n.1513+1894_1513+1895del
NM_001375281.1:c.1534+1894_1534+1895del	NP_001362210.1:n.1534+1894_1534+1895del
NM_001375282.1:c.1513+1894_1513+1895del	NP_001362211.1:n.1513+1894_1513+1895del